In Klinefelter Syndrome Patients, What are the Common Behavioral Problems?

Discussion
Klinefelter syndrome (KS) is a common genetic abnormaly with a prevalence of 1 in ~650 male births. It was first described in 1942 by Dr. Harry Klinefelter. It is associated with at least one extra X chromosome with the most common karyotype (~80% of patients) being 47 XXY. Other karyotypes are seen along with mosaicism. It is believed that although it is very prevalent, only about 25-33% of people with KS are identified. About 10% are identified before puberty with the rest usually identified because of hypogonadism and tall stature especially in teenage years or due to infertility in adulthood. KS is diagnosed by karyotype.
The phenotype varies but most commonly is associated with hypogonadotropic hypogonadism, infertility, gynecomastia and tall stature. The tall stature is remarkable for a lower segment> upper segment body habitus which can be noted after age 5 years. It is felt that the SHOX gene located on the X chromosome may play a part in this growth pattern.
KS patients have underdeveloped genitalia with small phallus and small testes (or cryptochidism). The testes have changes from fetal life but the testes start to enlarge at the time of puberty and then rapidly undergo fibrosis particularly of the Sertoli cells. Patients have elevated follicle-stimulating hormone and luteinizing hormone, but decreased testosterone. Decreased androgen can lead to decreased body hair or muscle strength and treatment with testosterone is usually given in adolescence if...

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ConclusionsThe altered electrophoretic pattern may be due to the presence of glycoproteins and not to specific GAGs, due to high levels of maternal hormones exposure during pregnancy. To our knowledge, this is the first time maternal estrogen hormones are proposed as a likely cause of false-positive urinary glycosaminoglycan screen test in healthy newborns.